Epilepsy is classified as idiopathic (genetic) or symptomatic (structural/metabolic), and seizures are classified as focal or generalized. This study identified the genetic cause of idiopathic epilepsy in Belgian shepherds. Samples were collected from 159 dogs and 148 controls in Finland, Denmark, and the United States; owners of the Finnish cohort also filled out questionnaires. Seizures began at 3 months of age up to 9 years (mean, 3.3 years). The median frequency of seizures was 5.25/year, with some dogs having fewer than 1/year and others having up to 10/day. Gene mapping was done for 40 cases and 44 controls. Homozygosity for a 2-SNP haplotype within the ADAM23 gene conferred the highest risk for epilepsy. A resequencing study to target the causative mutation has been initiated; this could establish the affected breed as a therapeutic model for human idiopathic epilepsy.

Identification of a novel idiopathic epilepsy locus in Belgian shepherd dogs. Seppälä EH, Koskinen LLE, Gulløv CH, et al. PLoS ONE doi:10.1371/journal.pone.0033549, 2012.

This capsule is part of the One Health Initiative